rs2069566

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(G;G)	0	common in clinvar

Make rs2069566(A;A)

Make rs2069566(A;G)

Reference

GRCh38 38.1/141

Chromosome

8

Position

133017940

Gene	LOC105375768, TG

is a	snp
is	mentioned by
dbSNP	rs2069566
dbSNP (classic)	rs2069566
ClinGen	rs2069566
ebi	rs2069566
HLI	rs2069566
Exac	rs2069566
Gnomad	rs2069566
Varsome	rs2069566
LitVar	rs2069566
Map	rs2069566
PheGenI	rs2069566
Biobank	rs2069566
1000 genomes	rs2069566
hgdp	rs2069566
ensembl	rs2069566
geneview	rs2069566
scholar	rs2069566
google	rs2069566
pharmgkb	rs2069566
gwascentral	rs2069566
openSNP	rs2069566
23andMe	rs2069566
SNPshot	rs2069566
SNPdbe	rs2069566
MSV3d	rs2069566
GWAS Ctlg	rs2069566

Max Magnitude

0

OMIM	188450
Desc
Variant	0012
Related	also

ClinVar
Risk	rs2069566(A;A)
Alt	rs2069566(A;A)
Reference	Rs2069566(G;G)
Significance	Pathogenic
Disease	Iodotyrosyl coupling defect
Variation	info
Gene	TG
CLNDBN	Iodotyrosyl coupling defect
Reversed	0
HGVS	NC_000008.10:g.134030185G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000013537.24,